 | Up a level |
Haghighi, Alireza, Tiwari, Amit, Piri, Niloofar, Nuernberg, Gudrun, Saleh-Gohari, Nasrollah, Haghighi, Amirreza, Neidhardt, John, Nuernberg, Peter and Berger, Wolfgang (2014). Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome. PLoS One, 9 (11). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203
Owczarek-Lipska, Marta, Reiff, Charlotte, Spital, Georg, Roeger, Carsten, Hinz, Hebke, Jueschke, Christoph, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Da Costa, Romain and Neidhardt, John (2016). Two distinct phenotypes in the same family are caused by the Schiff base counterion mutation p.E113K in rhodopsin. Invest. Ophthalmol. Vis. Sci., 57 (12). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783
Reiff, Charlotte, Owczarek-Lipska, Marta, Spital, Georg, Roeger, Carsten, Hinz, Hebke, Jueschke, Christoph, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Da Costa, Romain 
ORCID: 0000-0001-6729-3029 and Neidhardt, John
(2016).
The mutation p. E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.
Sci Rep, 6.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2045-2322
Tiwari, Amit, Lemke, Johannes, Altmueller, Janine, Thiele, Holger, Glaus, Esther, Fleischhauer, Johannes, Nuernberg, Peter, Neidhardt, John and Berger, Wolfgang (2016). Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations. PLoS One, 11 (7). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203